Problématiques du diagnostic des diabètes monogéniques

Identifying monogenic forms of diabetes (1-2%) is important because of practical consequences for patients in terms of prediction of disease progression, more appropriate treatment, and family member predictive genetic screening. Genetic testing recently evolved thanks to the development of new high throughput technologies. Next Generation Sequencing (NGS) now enables the simultaneous analysis of a large number of genes, thus permitting to solve more cases than previously (25% vs. 10%), when only a limited number of genes were analyzed. However, this approach comes with certain difficulties caused by the large-scale analysis, thus identifying several variants in a single patient, modifying the traditional clinical phenotypes associated with certain genes, or most importantly bringing to light unfamiliar genes and many variants whose pathogenicity remains to be documented. This participates in the redefinition of the spectrum as a clinical and molecular continuum between rare forms of monogenic diabetes and type 2 diabetes.